Too Little, Too Late

A long-standing practice of mine is every Sunday morning watching CBS’ Sunday Morning with Jane Pauley.  Love that show, it’s what I do while eating Sunday morning breakfast every week.

However, this Sunday morning (11/26/23) the lead story stirred up my emotions …. none good.  The story was regarding the current state of ALS (Lou Gehrig’s disease) and patient care of the same.  The episode highlighted a few individuals who have been living with the disease and the development of medicines that could help manage the progression of the disease. 

If you are not aware, ALS is a fatal disease of slowly degenerating muscle loss, currently with no known cause and no known cure.  It is very rare, only about 20,000 cases per year in the US.  Once diagnosed all that can be done is to manage the care of the disease, and there are a few medicines that can help with that.  This episode focused on medications that have been recently approved by the FDA and those still pending approval.  The story focused on patients who have organized to push for FDA approval and making allowances for medicine use before approval…. the logic being that the disease is fatal, so why wait.

My beef with the episode is that it did not focus, at all, on how difficult it is to diagnose this disease and the need for more physician training to successfully diagnose.  Why my passion around this aspect?

Karen Specht was the one friend in my life that I considered a sister by another mother.  Spring 2024 would have been the 50^th anniversary of that friendship.  She was my travel partner; we’ve traveled the world and the US together over those 50 years and had so many adventures I can’t begin to name them all.  In 2017 we were in Costa Rica for 2 weeks.  It was during that trip that it became very apparent that something was wrong….and thus began the journey of NOT KNOWING for 6 years!

Originally Karen and I met in Alaska.  Then I moved back to Ohio, eventually she moved to Wisconsin.  We typically saw each other a couple times per year and talked on the phone every Sunday.  After Costa Rica every time I saw her, I saw a body that was very slowly degenerating.  She could no longer hike the same distances, ride bikes like we used to and on and on.  Eventually it got to where her right leg dragged and she rarely smiled.  The last time I saw her before her death, she fell out of my car twice, and she was very depressed.  During 6+ years she had seen every doctor imaginable and taken every test imaginable …..and no one, no one, could tell her what was going on.  This even from the prestigious Mayo Clinic in Minnesota.  She would go to the hospital; they would run a couple of tests and then tell her nothing was wrong and to go home. 

Now I get it, ALS is very difficult to diagnose…. I get it.  Its symptoms are similar to many other conditions.  But after you rule out everything else, why, as a trained doctor don’t you turn to one last condition?  It wasn’t until Christmas week 2022, when she was told once more that there was nothing wrong with her, her husband flipped out and then they called for a neurologist who ran one more test, came back to the room and announced it was ALS.

Karen died just a few weeks later in March.  Yes, I know that even had she been diagnosed in 2017, she still would have passed.  But for 6 years she would have known what was going on.  She could have used those medicines that are currently available.  She could have had mental health support.  Her life could have been supported so differently.

I can’t even say how much I miss her.  How Sundays seem so empty now.  And how much I hope, that someday, someone will find a cure and a cause, and doctors will know how to diagnose.

For now though, it is too little, too late.